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Fusion gene ID: 31134 |
FusionGeneSummary for RGS7_DNAAF1 |
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Fusion gene information | Fusion gene name: RGS7_DNAAF1 | Fusion gene ID: 31134 | Hgene | Tgene | Gene symbol | RGS7 | DNAAF1 | Gene ID | 6000 | 123872 |
Gene name | regulator of G protein signaling 7 | dynein axonemal assembly factor 1 | |
Synonyms | - | CILD13|LRRC50|ODA7|swt | |
Cytomap | 1q43|1q23.1 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | regulator of G-protein signaling 7regulator of G-protein signaling RGS7regulator of G-protein signalling 7 | dynein assembly factor 1, axonemalleucine-rich repeat-containing protein 50outer row dynein assembly 7 homologtesticular tissue protein Li 110 | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P49802 | Q8NEP3 | |
Ensembl transtripts involved in fusion gene | ENST00000331110, ENST00000348120, ENST00000366563, ENST00000366564, ENST00000366565, ENST00000446183, ENST00000366562, ENST00000401882, ENST00000407727, | ENST00000334315, ENST00000378553, ENST00000563818, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 2 X 2 X 2=8 |
# samples | 3 | 2 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: RGS7 [Title/Abstract] AND DNAAF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RGS7 | GO:0043547 | positive regulation of GTPase activity | 10521509 |
![]() (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BG997808 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000331110 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000331110 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000331110 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000348120 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000348120 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000348120 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366563 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366563 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366563 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366564 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366564 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366564 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366565 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366565 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366565 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000446183 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000446183 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000446183 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366562 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366562 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000366562 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000401882 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000401882 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000401882 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000407727 | ENST00000334315 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000407727 | ENST00000378553 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
intron-intron | ENST00000407727 | ENST00000563818 | RGS7 | chr1 | 241026235 | - | DNAAF1 | chr16 | 84203980 | + |
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FusionProtFeatures for RGS7_DNAAF1 |
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Hgene | Tgene |
RGS7 | DNAAF1 |
Regulates G protein-coupled receptor signaling cascades.Inhibits signal transduction by increasing the GTPase activity ofG protein alpha subunits, thereby driving them into their inactiveGDP-bound form (PubMed:10521509, PubMed:10862767). The RGS7/GNB5dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play arole in synaptic vesicle exocytosis (PubMed:12659861). Modulatesthe activity of potassium channels that are activated by GNAO1 inresponse to muscarinic acetylcholine receptor M2/CHRM2 signaling(PubMed:15897264). {ECO:0000269|PubMed:10521509,ECO:0000269|PubMed:10862767, ECO:0000269|PubMed:15897264,ECO:0000305|PubMed:12659861}. | Cilium-specific protein required for the stability ofthe ciliary architecture. Plays a role in cytoplasmic preassemblyof dynein arms. Involved in regulation of microtubule-based ciliaand actin-based brush border microvilli.{ECO:0000269|PubMed:18385425, ECO:0000269|PubMed:19944400,ECO:0000269|PubMed:19944405}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for RGS7_DNAAF1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for RGS7_DNAAF1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RGS7_DNAAF1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RGS7_DNAAF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RGS7 | C3714756 | Intellectual Disability | 1 | CTD_human |
Tgene | DNAAF1 | C2750790 | CILIARY DYSKINESIA, PRIMARY, 13 | 1 | CTD_human;UNIPROT |